Canonical Allele Identifier: CA2691805368

Gene: ENG

Linked Data

• gnomAD v4: 9-127815334-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815334G>T , CM000671.2:g.127815334G>T	GRCh38
NC_000009.11:g.130577613G>T , CM000671.1:g.130577613G>T	GRCh37
NC_000009.10:g.129617434G>T	NCBI36
NG_009551.1:g.44435C>A , LRG_589:g.44435C>A
NG_023245.1:g.17460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*348C>A	ENSP00000479015.1:n.*348C>A
ENST00000373203.9:c.*348C>A MANE Select	ENSP00000362299.4:n.*348C>A
ENST00000344849.4:c.*583C>A	ENSP00000341917.3:n.*583C>A
ENST00000373203.8:c.*348C>A	ENSP00000362299.4:n.*348C>A
ENST00000480266.5:c.*348C>A	ENSP00000479015.1:n.*348C>A
NM_000118.3:c.*583C>A , LRG_589t1:c.*583C>A	NP_000109.1:n.*583C>A
NM_001114753.2:c.*348C>A , LRG_589t2:c.*348C>A	NP_001108225.1:n.*348C>A
NM_001278138.1:c.*348C>A	NP_001265067.1:n.*348C>A
NM_001114753.3:c.*348C>A MANE Select	NP_001108225.1:n.*348C>A
NM_001278138.2:c.*348C>A	NP_001265067.1:n.*348C>A